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rs374144275

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374144275(A;A)
Make rs374144275(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37120306
GeneC5orf42
is asnp
is mentioned by
dbSNPrs374144275
ebirs374144275
HLIrs374144275
Exacrs374144275
Varsomers374144275
Maprs374144275
PheGenIrs374144275
hapmaprs374144275
1000 genomesrs374144275
hgdprs374144275
ensemblrs374144275
gopubmedrs374144275
geneviewrs374144275
scholarrs374144275
googlers374144275
pharmgkbrs374144275
gwascentralrs374144275
openSNPrs374144275
23andMers374144275
23andMe allrs374144275
SNP Nexus

SNPshotrs374144275
SNPdbers374144275
MSV3drs374144275
GWAS Ctlgrs374144275
Max Magnitude0
ClinVar
Risk rs374144275(A;A)
Alt rs374144275(A;A)
Reference rs374144275(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37120408G>A
CLNSRC
CLNACC RCV000201669.1,